Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

Author Macena Sobreira, Nara Lygia de Autor UNIFESP Google Scholar
Alves, Maria Teresa de Seixas Autor UNIFESP Google Scholar
Perez, Ana Beatriz Alvarez Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Cernach, Mirlene Cecilia Soares Pinho Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.
Keywords acrolfacial anomalies
frontonasal dysplasia
mandibulofacial clysostosis
Language English
Date 2008-04-01
Published in Clinical Dysmorphology. Philadelphia: Lippincott Williams & Wilkins, v. 17, n. 2, p. 145-148, 2008.
ISSN 0962-8827 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 145-148
Origin http://dx.doi.org/10.1097/MCD.0b013e3282f0b758
Access rights Closed access
Type Article
Web of Science ID WOS:000254510500017
URI http://repositorio.unifesp.br/11600/43356

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